Neurodegenerative disorders, mutated gene

Genetic diseases can be divided into two main groups based on whether they are caused by relatively few common mutations or by many unique mutations. Tay-Sachs disease, a fatal neurodegenerative disorder caused by a deficiency of hexosaminidase A, is common in the Ashkenazi Jewish population. Three hexosaminidase mutations account for 96% of the disease in the Ashkenazi Jewish population (9). In contrast most patients with Fabry disease, a metabolic disorder caused by deficiency of the enzyme galactosi-dase A, have unique mutations in the galactosidase A gene (10). This... 

Human mutations in the gene encoding the copper/zinc form of superoxide dismutase have been shown to cause amyotrophic lateral sclerosis, a neurodegenerative disorder better known as Lou Gehrig s disease. 

CDKs form a group of heterodimeric serine/threo-nine kinases that regulate cell cycle progression. CDKs form complexes with cyclins, which act as activating partners. CDKs, cyclins, and CDK inhibitors act in a coordinated manner to achieve cellular homeostasis. Mutations within genes encoding for CDKs and/or associated cyclins have been often found in tumors and neurodegenerative disorders, since CDKs have also cell cycle-unrelated functions in neurons. 

---